Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.
Lo Ten Foe
J R
JR
Department of Human Genetics, Free University of Amsterdam, The Netherlands.
Kruyt
F A
FA
Zweekhorst
M B
MB
Pals
G
G
Gibson
R A
RA
Mathew
C G
CG
Joenje
H
H
Arwert
F
F
D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation
D018076:DNA, Complementary; D004247:DNA